Incidental Mutation 'R5493:Rbl2'
ID |
432184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbl2
|
Ensembl Gene |
ENSMUSG00000031666 |
Gene Name |
RB transcriptional corepressor like 2 |
Synonyms |
p130, Rb2, retinoblastoma-like 2 |
MMRRC Submission |
043054-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5493 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 91842447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1034
(P1034L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000120426]
[ENSMUST00000209518]
[ENSMUST00000211136]
|
AlphaFold |
Q64700 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034091
AA Change: P1077L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034091 Gene: ENSMUSG00000031666 AA Change: P1077L
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
CYCLIN
|
44 |
131 |
5.81e-1 |
SMART |
DUF3452
|
94 |
236 |
2.36e-77 |
SMART |
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
RB_A
|
414 |
606 |
3.42e-106 |
SMART |
low complexity region
|
722 |
733 |
N/A |
INTRINSIC |
low complexity region
|
758 |
771 |
N/A |
INTRINSIC |
low complexity region
|
776 |
789 |
N/A |
INTRINSIC |
low complexity region
|
804 |
818 |
N/A |
INTRINSIC |
CYCLIN
|
845 |
1008 |
2.86e-6 |
SMART |
Rb_C
|
1019 |
1135 |
5.42e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120426
|
SMART Domains |
Protein: ENSMUSP00000113379 Gene: ENSMUSG00000031667
Domain | Start | End | E-Value | Type |
UBCc
|
77 |
222 |
3.97e-31 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147361
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209518
AA Change: P1067L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211136
AA Change: P1034L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210728
|
Meta Mutation Damage Score |
0.3811 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
Validation Efficiency |
99% (80/81) |
MGI Phenotype |
PHENOTYPE: Nullizygous mice generally show no overt phenotype. Homozygotes for a null allele show strain-dependent embryonic lethality and growth arrest associated with altered apoptosis and cell proliferation, impaired neurogenesis and myogenesis, failed embryo turning and heart looping, and thin myocardium. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510009E07Rik |
A |
G |
16: 21,471,993 (GRCm39) |
S236P |
possibly damaging |
Het |
A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
Agpat3 |
A |
G |
10: 78,120,069 (GRCm39) |
V155A |
possibly damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
Aloxe3 |
A |
T |
11: 69,019,443 (GRCm39) |
R119* |
probably null |
Het |
Asap1 |
A |
G |
15: 64,002,000 (GRCm39) |
V460A |
possibly damaging |
Het |
Bicral |
C |
A |
17: 47,112,620 (GRCm39) |
R860L |
possibly damaging |
Het |
Cd180 |
T |
A |
13: 102,842,649 (GRCm39) |
I565N |
probably benign |
Het |
Cdk13 |
T |
C |
13: 17,978,147 (GRCm39) |
|
probably benign |
Het |
Cdkn2d |
T |
C |
9: 21,200,303 (GRCm39) |
D156G |
probably benign |
Het |
Clrn1 |
A |
G |
3: 58,753,837 (GRCm39) |
S175P |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,450,351 (GRCm39) |
L535S |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,783,110 (GRCm39) |
|
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,728,550 (GRCm39) |
L7P |
unknown |
Het |
D130043K22Rik |
A |
G |
13: 25,047,586 (GRCm39) |
Y377C |
probably damaging |
Het |
Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
Duox2 |
T |
C |
2: 122,111,977 (GRCm39) |
Q1341R |
probably damaging |
Het |
Eif2b3 |
A |
G |
4: 116,943,919 (GRCm39) |
D447G |
possibly damaging |
Het |
Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
Fbxw25 |
T |
C |
9: 109,481,984 (GRCm39) |
Y234C |
probably benign |
Het |
Gcnt2 |
A |
G |
13: 41,107,076 (GRCm39) |
N315S |
possibly damaging |
Het |
Gm20730 |
A |
T |
6: 43,058,746 (GRCm39) |
V22E |
possibly damaging |
Het |
Gm4847 |
T |
A |
1: 166,457,890 (GRCm39) |
I488F |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,124,488 (GRCm39) |
M290K |
probably benign |
Het |
Gtf3c1 |
T |
C |
7: 125,269,716 (GRCm39) |
N699S |
probably damaging |
Het |
Hk3 |
A |
G |
13: 55,158,984 (GRCm39) |
V479A |
probably damaging |
Het |
Ifnlr1 |
G |
A |
4: 135,432,877 (GRCm39) |
V438M |
probably benign |
Het |
Il12rb1 |
C |
A |
8: 71,262,483 (GRCm39) |
P26T |
probably benign |
Het |
Il4i1 |
G |
T |
7: 44,489,477 (GRCm39) |
R414L |
possibly damaging |
Het |
Ipo4 |
T |
C |
14: 55,868,327 (GRCm39) |
N490S |
probably benign |
Het |
Kcnmb2 |
A |
G |
3: 32,252,291 (GRCm39) |
E164G |
probably damaging |
Het |
Kcns1 |
G |
A |
2: 164,009,899 (GRCm39) |
L287F |
probably benign |
Het |
Kdm1a |
ACC |
AC |
4: 136,284,732 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,899,211 (GRCm39) |
I304K |
probably damaging |
Het |
Ksr2 |
G |
T |
5: 117,846,175 (GRCm39) |
V681F |
probably damaging |
Het |
Lypd2 |
T |
C |
15: 74,606,127 (GRCm39) |
T4A |
probably benign |
Het |
Man1a |
A |
G |
10: 53,950,576 (GRCm39) |
V182A |
probably benign |
Het |
Or12j4 |
A |
T |
7: 140,046,720 (GRCm39) |
D202V |
probably damaging |
Het |
Or13e8 |
A |
G |
4: 43,696,225 (GRCm39) |
F316S |
possibly damaging |
Het |
Or2w2 |
A |
T |
13: 21,758,042 (GRCm39) |
C195S |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,315 (GRCm39) |
R195W |
probably benign |
Het |
Or56b1b |
T |
C |
7: 108,164,774 (GRCm39) |
D76G |
probably benign |
Het |
Pcdha2 |
C |
A |
18: 37,072,562 (GRCm39) |
F64L |
probably damaging |
Het |
Pgap3 |
G |
C |
11: 98,281,540 (GRCm39) |
F168L |
possibly damaging |
Het |
Pip5k1b |
T |
C |
19: 24,416,439 (GRCm39) |
N16S |
probably benign |
Het |
Ppip5k1 |
T |
A |
2: 121,167,253 (GRCm39) |
H41L |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,159,702 (GRCm39) |
R1080G |
probably damaging |
Het |
Qrich2 |
A |
C |
11: 116,336,774 (GRCm39) |
|
probably null |
Het |
Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
Rin2 |
A |
G |
2: 145,702,629 (GRCm39) |
S442G |
probably damaging |
Het |
Rtca |
C |
T |
3: 116,293,280 (GRCm39) |
R71Q |
probably benign |
Het |
Serpind1 |
A |
T |
16: 17,157,902 (GRCm39) |
N366I |
probably damaging |
Het |
Shox2 |
C |
G |
3: 66,888,796 (GRCm39) |
G32R |
probably damaging |
Het |
Sp3 |
T |
A |
2: 72,768,466 (GRCm39) |
N766Y |
probably damaging |
Het |
Spag7 |
T |
A |
11: 70,560,059 (GRCm39) |
S17C |
probably null |
Het |
Stk25 |
A |
T |
1: 93,563,031 (GRCm39) |
F7I |
probably benign |
Het |
Tbx15 |
G |
A |
3: 99,259,880 (GRCm39) |
G584S |
probably benign |
Het |
Tenm2 |
T |
C |
11: 36,755,503 (GRCm39) |
D165G |
probably benign |
Het |
Tox2 |
C |
A |
2: 163,046,649 (GRCm39) |
S42* |
probably null |
Het |
Vmn1r39 |
A |
G |
6: 66,781,754 (GRCm39) |
V188A |
probably damaging |
Het |
Zbtb5 |
A |
T |
4: 44,993,941 (GRCm39) |
M481K |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,355,615 (GRCm39) |
T56A |
possibly damaging |
Het |
Zfp459 |
C |
A |
13: 67,556,498 (GRCm39) |
C195F |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp764 |
A |
G |
7: 127,004,105 (GRCm39) |
I342T |
probably benign |
Het |
Zfp942 |
T |
C |
17: 22,151,985 (GRCm39) |
N7D |
probably null |
Het |
|
Other mutations in Rbl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00832:Rbl2
|
APN |
8 |
91,812,073 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01084:Rbl2
|
APN |
8 |
91,848,941 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01317:Rbl2
|
APN |
8 |
91,826,685 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01637:Rbl2
|
APN |
8 |
91,833,066 (GRCm39) |
missense |
probably benign |
|
IGL01843:Rbl2
|
APN |
8 |
91,816,844 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01884:Rbl2
|
APN |
8 |
91,823,464 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02071:Rbl2
|
APN |
8 |
91,828,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Rbl2
|
APN |
8 |
91,813,712 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03027:Rbl2
|
APN |
8 |
91,805,534 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03162:Rbl2
|
APN |
8 |
91,812,330 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03200:Rbl2
|
APN |
8 |
91,823,395 (GRCm39) |
missense |
probably benign |
0.00 |
R0165:Rbl2
|
UTSW |
8 |
91,800,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Rbl2
|
UTSW |
8 |
91,833,135 (GRCm39) |
missense |
probably damaging |
0.99 |
R0238:Rbl2
|
UTSW |
8 |
91,833,135 (GRCm39) |
missense |
probably damaging |
0.99 |
R0317:Rbl2
|
UTSW |
8 |
91,813,772 (GRCm39) |
missense |
probably benign |
0.00 |
R0539:Rbl2
|
UTSW |
8 |
91,839,133 (GRCm39) |
splice site |
probably benign |
|
R1532:Rbl2
|
UTSW |
8 |
91,833,045 (GRCm39) |
missense |
probably benign |
0.01 |
R1696:Rbl2
|
UTSW |
8 |
91,812,352 (GRCm39) |
missense |
probably benign |
0.12 |
R1852:Rbl2
|
UTSW |
8 |
91,822,191 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1866:Rbl2
|
UTSW |
8 |
91,839,157 (GRCm39) |
missense |
probably benign |
0.00 |
R1975:Rbl2
|
UTSW |
8 |
91,812,090 (GRCm39) |
missense |
probably benign |
|
R2062:Rbl2
|
UTSW |
8 |
91,833,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R2180:Rbl2
|
UTSW |
8 |
91,816,683 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2423:Rbl2
|
UTSW |
8 |
91,813,774 (GRCm39) |
missense |
probably benign |
0.34 |
R3109:Rbl2
|
UTSW |
8 |
91,828,863 (GRCm39) |
missense |
probably benign |
|
R4356:Rbl2
|
UTSW |
8 |
91,833,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R4692:Rbl2
|
UTSW |
8 |
91,849,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Rbl2
|
UTSW |
8 |
91,812,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R4784:Rbl2
|
UTSW |
8 |
91,812,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R5084:Rbl2
|
UTSW |
8 |
91,841,759 (GRCm39) |
missense |
probably benign |
0.43 |
R5432:Rbl2
|
UTSW |
8 |
91,828,911 (GRCm39) |
missense |
probably benign |
0.01 |
R5546:Rbl2
|
UTSW |
8 |
91,805,560 (GRCm39) |
missense |
probably benign |
0.00 |
R5918:Rbl2
|
UTSW |
8 |
91,816,758 (GRCm39) |
missense |
probably benign |
0.02 |
R6186:Rbl2
|
UTSW |
8 |
91,833,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Rbl2
|
UTSW |
8 |
91,842,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R6526:Rbl2
|
UTSW |
8 |
91,823,467 (GRCm39) |
missense |
probably benign |
0.04 |
R6546:Rbl2
|
UTSW |
8 |
91,796,998 (GRCm39) |
missense |
probably benign |
|
R6714:Rbl2
|
UTSW |
8 |
91,833,415 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7214:Rbl2
|
UTSW |
8 |
91,810,057 (GRCm39) |
critical splice donor site |
probably null |
|
R7286:Rbl2
|
UTSW |
8 |
91,828,922 (GRCm39) |
nonsense |
probably null |
|
R7290:Rbl2
|
UTSW |
8 |
91,841,669 (GRCm39) |
missense |
probably benign |
0.33 |
R7315:Rbl2
|
UTSW |
8 |
91,802,640 (GRCm39) |
missense |
probably damaging |
0.96 |
R7524:Rbl2
|
UTSW |
8 |
91,841,821 (GRCm39) |
missense |
probably benign |
|
R8060:Rbl2
|
UTSW |
8 |
91,823,497 (GRCm39) |
critical splice donor site |
probably null |
|
R8071:Rbl2
|
UTSW |
8 |
91,840,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Rbl2
|
UTSW |
8 |
91,833,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R8302:Rbl2
|
UTSW |
8 |
91,812,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R8344:Rbl2
|
UTSW |
8 |
91,842,387 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8724:Rbl2
|
UTSW |
8 |
91,841,837 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8822:Rbl2
|
UTSW |
8 |
91,833,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9186:Rbl2
|
UTSW |
8 |
91,828,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R9729:Rbl2
|
UTSW |
8 |
91,805,527 (GRCm39) |
missense |
probably damaging |
0.97 |
R9801:Rbl2
|
UTSW |
8 |
91,822,229 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Rbl2
|
UTSW |
8 |
91,816,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTCCACTCAACTGTTG -3'
(R):5'- CTGATGTCCTCAAAACCCATTG -3'
Sequencing Primer
(F):5'- GCTAGGACGGCTTATTCTCAGAATTC -3'
(R):5'- AAAACCCATTGGATCCTGGGTTC -3'
|
Posted On |
2016-10-05 |